rs397514754

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs397514754(A;C)

Make rs397514754(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75540130

Gene

TMEM231

is a	snp
is	mentioned by
dbSNP	rs397514754
dbSNP (classic)	rs397514754
ClinGen	rs397514754
ebi	rs397514754
HLI	rs397514754
Exac	rs397514754
Gnomad	rs397514754
Varsome	rs397514754
LitVar	rs397514754
Map	rs397514754
PheGenI	rs397514754
Biobank	rs397514754
1000 genomes	rs397514754
hgdp	rs397514754
ensembl	rs397514754
geneview	rs397514754
scholar	rs397514754
google	rs397514754
pharmgkb	rs397514754
gwascentral	rs397514754
openSNP	rs397514754
23andMe	rs397514754
SNPshot	rs397514754
SNPdbe	rs397514754
MSV3d	rs397514754
GWAS Ctlg	rs397514754

Max Magnitude

0

ClinVar
Risk	rs397514754(C;C)
Alt	rs397514754(C;C)
Reference	Rs397514754(A;A)
Significance	Pathogenic
Disease	Meckel syndrome
Variation	info
Gene	TMEM231
CLNDBN	Meckel syndrome, type 11
Reversed	1
HGVS	NC_000016.9:g.75574028T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054807.4,